Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121917815
rs121917815
3 0.925 0.120 3 186854303 missense variant C/T snv 4.0E-06; 1.2E-05 0.710 1.000 1 2003 2003
dbSNP: rs185847354
rs185847354
11 0.763 0.160 3 186854460 missense variant T/C snv 3.1E-04 7.0E-05 0.020 1.000 2 2003 2003
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2011 2011
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1656930
rs1656930
3 1.000 0.080 3 186835068 intergenic variant A/G snv 0.86 0.010 1.000 1 2011 2011
dbSNP: rs17366743
rs17366743
7 0.807 0.280 3 186854300 missense variant T/C snv 2.2E-02 2.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs17855750
rs17855750
21 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs199646033
rs199646033
3 0.925 0.120 3 186854219 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 1.000 1 2010 2010
dbSNP: rs26528
rs26528
9 0.807 0.200 16 28506388 intron variant T/C snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs3865188
rs3865188
10 0.790 0.320 16 82617112 intergenic variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs40837
rs40837
5 0.925 0.120 16 28499524 3 prime UTR variant A/G snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs62625753
rs62625753
3 0.925 0.120 3 186854237 missense variant G/A snv 3.0E-03 2.9E-03 0.010 1.000 1 2003 2003
dbSNP: rs822393
rs822393
3 0.882 0.160 3 186848537 intron variant C/T snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs822396
rs822396
16 0.732 0.400 3 186849088 intron variant G/A snv 0.81 0.010 1.000 1 2013 2013
dbSNP: rs950561906
rs950561906
SDS
3 0.925 0.120 12 113398775 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2003 2003